Mutagenetix > Incidental Mutation

Incidental Mutation 'R7287:Or10ak12'

566076

Institutional Source

Beutler Lab

Gene Symbol

Or10ak12

Ensembl Gene

ENSMUSG00000066061

Gene Name

olfactory receptor family 10 subfamily AK member 12

Synonyms

GA_x6K02T2QD9B-18726774-18727577, MOR259-5, Olfr1334-ps1, Olfr1335, GA_x6K02T2QD9B-18723799-18724749, MOR259-12

MMRRC Submission

045321-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R7287 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118666052-118667059 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 118666939 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 41 (T41S)

Ref Sequence

ENSEMBL: ENSMUSP00000151219 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084313] [ENSMUST00000105035] [ENSMUST00000219094]

AlphaFold

B2RVY8

Predicted Effect

probably damaging
Transcript: ENSMUST00000084313
AA Change: T41S

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000081339
Gene: ENSMUSG00000066061
AA Change: T41S

Domain	Start	End	E-Value	Type
Pfam:7tm_4	50	326	2.3e-56	PFAM
Pfam:7TM_GPCR_Srsx	54	323	3.7e-8	PFAM
Pfam:7tm_1	60	309	2.1e-26	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000105035
AA Change: T25S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000100652
Gene: ENSMUSG00000073768
AA Change: T25S

Domain	Start	End	E-Value	Type
Pfam:7TM_GPCR_Srsx	38	307	6.4e-8	PFAM
Pfam:7tm_1	44	293	2.9e-31	PFAM
Pfam:7tm_4	142	286	6.7e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000219094
AA Change: T41S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (71/71)

MGI Phenotype

FUNCTION: Olfactory receptors interact with odorant molecules in the nose, to initiate a neuronal response that triggers the perception of a smell. The olfactory receptor proteins are members of a large family of G-protein-coupled receptors (GPCR) arising from single coding-exon genes. Olfactory receptors share a 7-transmembrane domain structure with many neurotransmitter and hormone receptors and are responsible for the recognition and G protein-mediated transduction of odorant signals. The olfactory receptor gene family is the largest in the genome. The nomenclature assigned to the olfactory receptor genes and proteins for this organism is independent of other organisms. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	G	17: 24,604,861 (GRCm39)	D656G	possibly damaging	Het
Abcc3	C	T	11: 94,247,873 (GRCm39)	A1207T	probably benign	Het
Abcc8	T	C	7: 45,762,534 (GRCm39)	H1209R	probably damaging	Het
Adam26a	T	C	8: 44,023,380 (GRCm39)	T37A	possibly damaging	Het
Adamts9	C	T	6: 92,866,984 (GRCm39)	R685Q	possibly damaging	Het
Anapc7	T	A	5: 122,571,499 (GRCm39)	N191K	probably benign	Het
Ankrd26	C	T	6: 118,526,598 (GRCm39)		probably null	Het
Ap5z1	T	C	5: 142,459,802 (GRCm39)	L484P	probably damaging	Het
Arhgap32	A	G	9: 32,063,993 (GRCm39)	D77G		Het
Atp10a	T	A	7: 58,477,017 (GRCm39)	D1213E	probably damaging	Het
B3gnt8	T	C	7: 25,328,395 (GRCm39)	L275P	probably damaging	Het
Bltp2	G	A	11: 78,163,709 (GRCm39)	R1059H	possibly damaging	Het
Cab39	A	G	1: 85,746,182 (GRCm39)	E21G	probably benign	Het
Capn15	G	T	17: 26,179,429 (GRCm39)	S948R	probably damaging	Het
Cbarp	T	C	10: 79,973,154 (GRCm39)	T15A	unknown	Het
Ccdc81	C	T	7: 89,542,331 (GRCm39)	A182T	probably damaging	Het
Ccpg1	A	G	9: 72,922,688 (GRCm39)	H766R	probably benign	Het
Cfl1	T	C	19: 5,542,562 (GRCm39)	V14A	probably benign	Het
Chd6	A	G	2: 160,850,312 (GRCm39)	I875T	probably benign	Het
Cidec	T	A	6: 113,405,359 (GRCm39)	E121D	probably benign	Het
Clpx	C	A	9: 65,207,295 (GRCm39)	Y64*	probably null	Het
Cntn1	T	A	15: 92,143,833 (GRCm39)		probably null	Het
Cyp24a1	A	G	2: 170,327,826 (GRCm39)	L472P	probably damaging	Het
Dcdc2c	G	T	12: 28,566,685 (GRCm39)	D159E	probably benign	Het
Emp1	T	C	6: 135,357,167 (GRCm39)	F82L	probably benign	Het
Fem1b	T	C	9: 62,703,404 (GRCm39)	T619A	probably benign	Het
Fgf15	A	T	7: 144,450,531 (GRCm39)	D39V	probably benign	Het
Galnt12	T	G	4: 47,108,525 (GRCm39)	F221V	probably damaging	Het
Herc6	A	G	6: 57,628,965 (GRCm39)		probably null	Het
Hspg2	G	A	4: 137,256,867 (GRCm39)	V1537I	probably benign	Het
Ido2	T	C	8: 25,025,154 (GRCm39)		probably null	Het
Insr	G	A	8: 3,219,717 (GRCm39)	T935I	probably benign	Het
Itgax	G	A	7: 127,747,677 (GRCm39)	C1031Y	probably damaging	Het
Kif13a	C	T	13: 46,905,931 (GRCm39)	V671M	possibly damaging	Het
Kmt5b	T	C	19: 3,854,501 (GRCm39)	Y255H	possibly damaging	Het
Lrriq1	A	T	10: 103,051,877 (GRCm39)	Y292N	probably benign	Het
Mrpl37	A	G	4: 106,917,717 (GRCm39)	F318S	probably damaging	Het
Nav2	A	G	7: 49,070,076 (GRCm39)	N311D	probably benign	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nlrp9b	T	C	7: 19,762,381 (GRCm39)	C673R	probably damaging	Het
Npnt	A	G	3: 132,612,563 (GRCm39)	V74A	probably benign	Het
Or1e19	T	A	11: 73,316,669 (GRCm39)	I47F	probably benign	Het
Plce1	A	T	19: 38,690,347 (GRCm39)	Q677L	probably benign	Het
Pmel	C	T	10: 128,551,095 (GRCm39)	Q113*	probably null	Het
Pom121l2	T	A	13: 22,168,502 (GRCm39)	F924L	probably benign	Het
Poteg	G	A	8: 27,943,372 (GRCm39)	R214K	probably null	Het
Pprc1	G	T	19: 46,059,793 (GRCm39)	S1480I	unknown	Het
Secisbp2l	A	G	2: 125,582,289 (GRCm39)	S1056P	probably benign	Het
Selenoo	T	C	15: 88,982,903 (GRCm39)	F477L	probably benign	Het
Senp2	A	G	16: 21,837,114 (GRCm39)	D121G	probably damaging	Het
Slc25a11	T	C	11: 70,536,181 (GRCm39)	D211G	probably benign	Het
Slc44a2	A	G	9: 21,253,752 (GRCm39)	D131G	probably benign	Het
Tcf25	G	A	8: 124,100,711 (GRCm39)	A34T	possibly damaging	Het
Tm9sf3	A	G	19: 41,205,818 (GRCm39)	Y530H	probably damaging	Het
Tmco3	G	A	8: 13,369,605 (GRCm39)		probably null	Het
Tmem132d	G	T	5: 128,061,415 (GRCm39)	Q396K	probably damaging	Het
Tmem154	A	G	3: 84,597,870 (GRCm39)	T136A	possibly damaging	Het
Tnrc6b	A	G	15: 80,763,742 (GRCm39)	T415A	possibly damaging	Het
Tonsl	T	C	15: 76,517,925 (GRCm39)		probably null	Het
Ttyh1	T	C	7: 4,128,657 (GRCm39)	Y185H	probably benign	Het
Ufl1	T	A	4: 25,254,852 (GRCm39)	T535S	probably benign	Het
Vmn1r15	T	C	6: 57,235,201 (GRCm39)	L23P	possibly damaging	Het
Vmn2r25	T	A	6: 123,829,040 (GRCm39)	H78L	possibly damaging	Het
Vmn2r68	T	C	7: 84,871,460 (GRCm39)	T608A	probably benign	Het
Vwf	A	G	6: 125,614,430 (GRCm39)	I1104V		Het
Zbtb2	C	T	10: 4,318,986 (GRCm39)	D347N	possibly damaging	Het
Zfyve9	A	T	4: 108,575,453 (GRCm39)	S543T	probably benign	Het
Zhx1	T	C	15: 57,916,692 (GRCm39)	N518S	probably damaging	Het
Zmym6	T	C	4: 127,016,775 (GRCm39)	V852A	possibly damaging	Het

Other mutations in Or10ak12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01096:Or10ak12	APN	4	118,666,653 (GRCm39)	missense	probably damaging	0.98
IGL02481:Or10ak12	APN	4	118,666,696 (GRCm39)	missense	probably benign	0.01
IGL02483:Or10ak12	APN	4	118,666,696 (GRCm39)	missense	probably benign	0.01
R0058:Or10ak12	UTSW	4	118,666,677 (GRCm39)	missense	probably benign
R0069:Or10ak12	UTSW	4	118,666,887 (GRCm39)	missense	probably damaging	1.00
R0357:Or10ak12	UTSW	4	118,666,614 (GRCm39)	missense	probably damaging	1.00
R1274:Or10ak12	UTSW	4	118,666,593 (GRCm39)	missense	probably benign	0.01
R1432:Or10ak12	UTSW	4	118,666,435 (GRCm39)	missense	probably benign	0.00
R2305:Or10ak12	UTSW	4	118,666,058 (GRCm39)	missense	probably benign	0.35
R2368:Or10ak12	UTSW	4	118,667,019 (GRCm39)	missense	probably benign
R3842:Or10ak12	UTSW	4	118,666,452 (GRCm39)	missense	probably damaging	1.00
R3980:Or10ak12	UTSW	4	118,666,500 (GRCm39)	missense	probably benign	0.22
R4722:Or10ak12	UTSW	4	118,666,146 (GRCm39)	missense	probably damaging	0.99
R5074:Or10ak12	UTSW	4	118,666,057 (GRCm39)	missense	possibly damaging	0.82
R5439:Or10ak12	UTSW	4	118,666,560 (GRCm39)	missense	possibly damaging	0.95
R5930:Or10ak12	UTSW	4	118,666,575 (GRCm39)	missense	probably benign	0.01
R6917:Or10ak12	UTSW	4	118,666,326 (GRCm39)	missense	probably damaging	1.00
R7525:Or10ak12	UTSW	4	118,666,691 (GRCm39)	missense	probably damaging	0.99
R7717:Or10ak12	UTSW	4	118,666,130 (GRCm39)	missense	probably damaging	0.99
R8293:Or10ak12	UTSW	4	118,666,939 (GRCm39)	missense	probably benign	0.01
R8765:Or10ak12	UTSW	4	118,666,159 (GRCm39)	missense	probably benign	0.05
R8877:Or10ak12	UTSW	4	118,666,482 (GRCm39)	missense	probably damaging	0.98
R9165:Or10ak12	UTSW	4	118,666,195 (GRCm39)	nonsense	probably null
R9689:Or10ak12	UTSW	4	118,666,999 (GRCm39)	missense	probably benign
X0023:Or10ak12	UTSW	4	118,666,818 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CATGGTGGTGGTGACATAGC -3'
(R):5'- GCTTAGAAGCCACATTGCAATC -3'

Sequencing Primer
(F):5'- TGGTGGTGACATAGCCCATATCC -3'
(R):5'- CACCAAGTGTGTGTCTGGAC -3'

Posted On

2019-06-26